Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 49 Records) |
Query Trace: DNAH5[original query] |
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Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome. Frontiers in genetics 2019 10 749. Yue Yongjian, Huang Qijun, Zhu Peng, Zhao Pan, Tan Xinjuan, Liu Shengguo, Li Shulin, Han Xuemei, Cheng Linling, Li Bo, Fu Yingy |
Histologic features and genomic alterations of primary colorectal adenocarcinoma predict growth patterns of liver metastasis. World journal of gastroenterology 2019 Jul 25 (26): 3408-3425. Wu Jing-Bo, Sarmiento Ali Lopez, Fiset Pierre-Olivier, Lazaris Anthula, Metrakos Peter, Petrillo Stephanie, Gao Zu-H |
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. Journal of medical genetics 2019 12 57 (5): 322-330. Fassad Mahmoud R, Patel Mitali P, Shoemark Amelia, Cullup Thomas, Hayward Jane, Dixon Mellisa, Rogers Andrew V, Ollosson Sarah, Jackson Claire, Goggin Patricia, Hirst Robert A, Rutman Andrew, Thompson James, Jenkins Lucy, Aurora Paul, Moya Eduardo, Chetcuti Philip, O'Callaghan Chris, Morris-Rosendahl Deborah J, Watson Christopher M, Wilson Robert, Carr Siobhan, Walker Woolf, Pitno Andreia, Lopes Susana, Morsy Heba, Shoman Walaa, Pereira Luisa, Constant Carolina, Loebinger Michael R, Chung Eddie M K, Kenia Priti, Rumman Nisreen, Fasseeh Nader, Lucas Jane S, Hogg Claire, Mitchison Hannah |
Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey. Pediatric pulmonology 2019 11 55 (2): 383-393. Emiralio?lu Nagehan, Ta?k?ran Ekim Z, Ko?ukcu Can, Bilgiç Elif, Atilla Pergin, Kaya Bengisu, Günayd?n Önder, Yüzba??o?lu Ay?e, Tu?cu Gökçen Dil?a, Ademhan Dilber, Ery?lmaz Polat Sanem, Gharibzadeh H?zal Mina, Yalç?n Ebru, Do?ru Deniz, Kiper Nural, Alika?ifo?lu Mehmet, Özçelik U? |
Mutational Landscape of Esophageal Squamous Cell Carcinoma in an Indian Cohort. Frontiers in oncology 2020 9 10 1457. Mangalaparthi Kiran K, Patel Krishna, Khan Aafaque A, Manoharan Malini, Karunakaran Coral, Murugan Sakthivel, Gupta Ravi, Gupta Rohit, Khanna-Gupta Arati, Chaudhuri Amitabha, Kumar Prashant, Nair Bipin, Kumar Rekha V, Prasad T S Keshava, Chatterjee Aditi, Pandey Akhilesh, Gowda Hars |
Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient: A case report. Medicine 2020 7 99 (28): e20813. He Jing, Li Leilei, Yu Yang, Hu Xiaonan, Zhang Hongguo, Liu Ruizhi, Wang Ruix |
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China. The Journal of pediatrics 2020 6 225 157-165.e5. Guo Zhuoyao, Chen Weicheng, Wang Libo, Qian Lili |
A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia. Journal of genetics 2020 2 99 . Mani Rahma, Bouguila JihèNe, Ameur Salma Ben, Hachicha Mongia, Soua Zohra, Mabrouk Im |
Replication study of susceptibility variants associated with allergic rhinitis and allergy in Han Chinese. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2020 16 13. Gao Yunbo, Li Jingyun, Zhang Yuan, Zhang L |
Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML. Blood 2021 9 139 (8): 1208-1221. Yang Fei, Long Nicola, Anekpuritanang Tauangtham, Bottomly Daniel, Savage Jonathan C, Lee Tiffany, Solis-Ruiz Jose, Borate Uma, Wilmot Beth, Tognon Cristina, Bock Allison M, Pollyea Daniel A, Radhakrishnan Saikripa, Radhakrishnan Srinidhi, Patel Prapti, Collins Robert H, Tantravahi Srinivas, Deininger Michael W, Fan Guang, Druker Brian, Shinde Ujwal, Tyner Jeffrey W, Press Richard D, McWeeney Shannon, Agarwal Anupri |
The Relationship between Genotype and Phenotype in Primary Ciliary Dyskinesia Patients. Sisli Etfal Hastanesi tip bulteni 2021 55 (2): 188-192. Kilinc Ayse Ayzit, Cebi Memnune Nur, Ocak Zeynep, Cokugras Haluk Cez |
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia. Orphanet journal of rare diseases 2021 7 16 (1): 293. Zhao Xinyue, Bian Chun, Liu Keqiang, Xu Wenshuai, Liu Yaping, Tian Xinlun, Bai Jing, Xu Kai-Feng, Zhang X |
Heterogeneity Analysis of Esophageal Squamous Cell Carcinoma in Cell Lines, Tumor Tissues and Patient-Derived Xenografts. Journal of Cancer 2021 12 (13): 3930-3944. Ma Fayang, Laster Kyle, Nie Wenna, Liu Fangfang, Kim Dong Joon, Lee Mee-Hyun, Bai Ruihua, Yang Rendong, Liu Kangdong, Dong Ziga |
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility. Minerva endocrinology 2021 5 47 (1): 4-10. Precone Vincenza, Notarangelo Angelantonio, Marceddu Giuseppe, D'Agruma Leonardo, Cannarella Rossella, Calogero Aldo E, Cristofoli Francesca, Guerri Giulia, Paolacci Stefano, Castori Marco, Bertelli Matt |
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia. Annals of the American Thoracic Society 2021 3 18 (6): 963-970. Pifferi Massimo, Bush Andrew, Mulé Giuseppe, Gracci Serena, Fonnesu Rossella, Michelucci Angela, Cangiotti Angela, Caligo Maria Adelaide, Miccoli Mario, Boner Attilio L, Peroni Die |
Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing. Yonsei medical journal 2021 2 62 (3): 224-230. Cho Eun Hye, Ki Chang Seok, Yun Sun Ae, Kim Su Young, Jhun Byung Woo, Koh Won Jung, Huh Hee Jae, Lee Nam Yo |
Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage. Annals of neurology 2021 2 89 (4): 813-822. Hausman-Kedem Moran, Malinger Gustavo, Modai Shira, Kushner Steven A, Shiran Shelly I, Ben-Sira Liat, Roth Jonathan, Constantini Shlomi, Fattal-Valevski Aviva, Ben-Shachar Sh |
Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel. Frontiers in endocrinology 2020 11 605237. Precone Vincenza, Cannarella Rossella, Paolacci Stefano, Busetto Gian Maria, Beccari Tommaso, Stuppia Liborio, Tonini Gerolamo, Zulian Alessandra, Marceddu Giuseppe, Calogero Aldo E, Bertelli Matt |
Titin Mutation Is Associated With Tumor Mutation Burden and Promotes Antitumor Immunity in Lung Squamous Cell Carcinoma. Frontiers in cell and developmental biology 2021 11 9 761758. Xie Xiaona, Tang Yemeng, Sheng Jueqi, Shu Pingping, Zhu Xiayan, Cai Xueding, Zhao Chengguang, Wang Liangxing, Huang Xiaoyi |
Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients.
British journal of cancer 2021 Oct . Quintanilha Julia C F, Wang Jin, Sibley Alexander B, Jiang Chen, Etheridge Amy S, Shen Fei, Jiang Guanglong, Mulkey Flora, Patel Jai N, Hertz Daniel L, Dees Elizabeth Claire, McLeod Howard L, Bertagnolli Monica, Rugo Hope, Kindler Hedy L, Kelly William Kevin, Ratain Mark J, Kroetz Deanna L, Owzar Kouros, Schneider Bryan P, Lin Danyu, Innocenti Federi |
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia. The European respiratory journal 2021 1 58 (2): . Shoemark Amelia, Rubbo Bruna, Legendre Marie, Fassad Mahmoud R, Haarman Eric G, Best Sunayna, Bon Irma C M, Brandsma Joost, Burgel Pierre-Regis, Carlsson Gunnar, Carr Siobhan B, Carroll Mary, Edwards Matt, Escudier Estelle, Honoré Isabelle, Hunt David, Jouvion Gregory, Loebinger Michel R, Maitre Bernard, Morris-Rosendahl Deborah, Papon Jean-Francois, Parsons Camille M, Patel Mitali P, Thomas N Simon, Thouvenin Guillaume, Walker Woolf T, Wilson Robert, Hogg Claire, Mitchison Hannah M, Lucas Jane |
Genome-wide association analysis of cognitive function in Danish long-lived individuals.
Mechanisms of ageing and development 2021 2 195 111463. Nygaard Marianne, Dowsett Joseph, McGue Matt, Christensen Kaare, Christiansen Lene, Tan Qihua, Mengel-From Jon |
Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness. Scientific reports 2022 7 12 (1): 12514. Joo Jaehyun, Mak Angel C Y, Xiao Shujie, Sleiman Patrick M, Hu Donglei, Huntsman Scott, Eng Celeste, Kan Mengyuan, Diwakar Avantika R, Lasky-Su Jessica A, Weiss Scott T, Sordillo Joanne E, Wu Ann C, Cloutier Michelle, Canino Glorisa, Forno Erick, Celedón Juan C, Seibold Max A, Hakonarson Hakon, Williams L Keoki, Burchard Esteban G, Himes Blanca |
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review. Orphanet journal of rare diseases 2022 Jul 17 (1): 283. Peng Bo, Gao Yong-Hua, Xie Jia-Qi, He Xiao-Wen, Wang Cong-Cong, Xu Jin-Fu, Zhang Guo-J |
Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort. Frontiers in genetics 2022 5 13 818241. Yi Tong, Sun Hairui, Fu Yuwei, Hao Xiaoyan, Sun Lin, Zhang Ye, Han Jiancheng, Gu Xiaoyan, Liu Xiaowei, Guo Yong, Wang Xin, Zhou Xiaoxue, Zhang Siyao, Yang Qi, Fan Jiaqi, He Yih |
Impact of neoadjuvant chemotherapy on somatic mutation status in high-grade serous ovarian carcinoma. Journal of ovarian research 2022 5 15 (1): 50. Marchocki Zibi, Tone Alicia, Virtanen Carl, de Borja Richard, Clarke Blaise, Brown Theodore, May Taym |
Tumour genotypes account for survival differences in right- and left-sided colon cancers. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2022 Jan . Ward Thomas M, Cauley Christy E, Stafford Caitlin E, Goldstone Robert N, Bordeianou Liliana G, Kunitake Hiroko, Berger David L, Ricciardi Roc |
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis. Journal of human genetics 2023 3 . Xu Yifei, Feng Guofei, Yano Taichi, Masuda Sawako, Nagao Mizuho, Gotoh Shimpei, Ikejiri Makoto, Tanabe Masaki, Takeuchi Kazuhi |
Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings. Yonsei medical journal 2023 12 65 (1): 48-54. Jiyoung Oh, Jin-Sung Lee, Moo Suk Park, Young Ae Kang, Hyung-Ju Cho, Song Yee Kim, Jinsei Jung, Sun Och Yoon, Kyung Won K |
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype. Cells 2023 11 12 (22): . Ben O Staar, Jan Hegermann, Bernd Auber, Raphael Ewen, Sandra von Hardenberg, Ruth Olmer, Isabell Pink, Jessica Rademacher, Martin Wetzke, Felix C Ringshaus |
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- Page last updated:Mar 25, 2024
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